Variant report

Variant	rs7971310
Chromosome Location	chr12:47428174-47428175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47426514..47428986-chr12:47432819..47435080,2	K562	blood:
2	chr12:47427484..47430448-chr12:47461043..47464291,4	MCF-7	breast:
3	chr12:47424715..47431022-chr12:47469878..47476557,9	MCF-7	breast:
4	chr12:47423549..47426668-chr12:47427215..47430937,3	K562	blood:

Variant related genes	Relation type
ENSG00000179715	Chromatin interaction
ENSG00000139211	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10785651	0.94[ASN][1000 genomes]
rs10881039	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183677	0.85[EUR][1000 genomes]
rs11183695	0.82[AMR][1000 genomes]
rs11183699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183706	0.94[ASN][1000 genomes]
rs11183710	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183711	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1989912	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2263492	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2408647	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2522258	0.81[EUR][1000 genomes]
rs2522269	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34142537	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768770	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7134654	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7305847	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7956438	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7958568	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs7960974	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7971796	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7972871	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7978950	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47418000-47428400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47426200-47428800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:47426400-47428200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:47426600-47428400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:47426600-47428600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:47426600-47428800	Enhancers	HSMMtube	muscle
7	chr12:47426600-47429000	Enhancers	HMEC	breast
8	chr12:47426600-47429000	Enhancers	HSMM	muscle
9	chr12:47426600-47429000	Enhancers	NH-A	brain
10	chr12:47426600-47429200	Enhancers	Colon Smooth Muscle	Colon
11	chr12:47426600-47429200	Flanking Active TSS	A549	lung
12	chr12:47426600-47429600	Enhancers	Hela-S3	cervix
13	chr12:47426600-47429800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:47426800-47428600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:47426800-47428800	Enhancers	NHEK	skin
16	chr12:47426800-47429000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:47426800-47429000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr12:47426800-47429000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:47426800-47429400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:47426800-47429400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:47426800-47429400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:47426800-47429800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:47427000-47428200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:47427000-47429000	Enhancers	Ovary	ovary
25	chr12:47427000-47429400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:47427000-47429600	Enhancers	Fetal Intestine Large	intestine
27	chr12:47427200-47428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:47427200-47428200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:47427200-47428400	Weak transcription	Fetal Kidney	kidney
30	chr12:47427200-47428400	Weak transcription	Pancreas	Pancrea
31	chr12:47427200-47428600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:47427200-47428600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:47427200-47429400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:47427400-47428800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:47427400-47429000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:47427400-47429200	Enhancers	Fetal Intestine Small	intestine
37	chr12:47427600-47428800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:47427600-47429000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:47427800-47428200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:47427800-47428200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr12:47427800-47428200	Weak transcription	Osteobl	bone
42	chr12:47427800-47428600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:47427800-47428600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:47427800-47429200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:47427800-47431800	Weak transcription	Liver	Liver
46	chr12:47428000-47428200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:47428000-47428600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:47428000-47428800	Enhancers	Stomach Smooth Muscle	stomach

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